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Wilson Disease: Update on Pathophysiology and Treatment

2 May 2022

Abstract excerpt

Wilson disease (WD) is a potentially fatal genetic disorder with a broad spectrum of phenotypic presentations. Inactivation of the copper (Cu) transporter ATP7B and Cu overload in tissues, especially in the liver, are established causes of WD. However, neither specific ATP7B mutations nor hepatic Cu levels, alone, explain the diverse clinical presentations of WD. Recently, the new molecular details of WD...

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PMID: 35586338
DOI: 10.3389/fcell.2022.871877

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